Oculopharyngodistal myopathy 1

Preferred Label : Oculopharyngodistal myopathy 1;

Symbol : OPDM1;

CISMeF acronym : FOLP-DR; OPDM; OPDM1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FOLP-DR; Faciooculolaryngopharyngeal myopathy with distal and respiratory involvement; OPDM; Oculopharyngodistal myopathy;

Description : Oculopharyngodistal myopathy (OPDM) is characterized by adult-onset of eye and facial muscle weakness, distal muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria. There are variable manifestations of the disorder regarding muscle involvement and severity. Both autosomal recessive and autosomal dominant inheritance have been reported. OPDM is considered distinct from oculopharyngeal muscular dystrophy (OPMD; 164300), which is caused by mutation in the;

Inheritance : Autosomal dominant;

Molecular basis : Caused by trinucleotide repeat expansion (CGG) in the low density lipoprotein receptor-related protein 12 gene (LRP12, 618299.0001);

Laboratory abnormalities : Serum creatine kinase may be normal or increased;

Prefixed ID : #164310;

Details

Origin ID

164310;

UMLS CUI

C5231388;

Genes related to phenotype
- Low density lipoprotein receptor-related protein 12 [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Areflexia [HPO term]
- Aspiration [HPO term]
- Ataxia [HPO term]
- Autophagic vacuoles [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral ptosis [HPO term]
- Bowing of the vocal cords [HPO term]
- Brain atrophy [HPO term]
- Difficulty walking [HPO term]
- Dilated cardiomyopathy [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Dysphonia [HPO term]
- EMG: myopathic abnormalities [HPO term]
- EMG: myotonic discharges [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- External ophthalmoplegia [HPO term]
- Facial palsy [HPO term]
- Foot dorsiflexor weakness [HPO term]
- High palate [HPO term]
- Hypercapnia [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Juvenile onset [HPO term]
- Middle age onset [HPO term]
- Muscle spasm [HPO term]
- Muscle weakness [HPO term]
- Myopathic changes on muscle biopsy [HPO term]
- Myopathic facies [HPO term]
- Nasal speech [HPO term]
- Ophthalmoparesis [HPO term]
- Paroxysmal atrial fibrillation [HPO term]
- Proximal muscle weakness [HPO term]
- Ptosis [HPO term]
- Reduced forced vital capacity [HPO term]
- Respiratory distress [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Restrictive ventilatory defect [HPO term]
- Rimmed vacuoles [HPO term]
- Sensorineural hearing impairment [HPO term]
- Slowly progressive [HPO term]
- Tremor [HPO term]
- Weakness [HPO term]
- Weight loss [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Oculopharyngodistal myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oculopharyngodistal myopathy [ORDO Disease]
- Oculopharyngodistal myopathy (disorder) [SNOMED CT concept]
- oculopharyngodistal myopathy [MeSH Supplementary Concept]
- oculopharyngodistal myopathy [MeSH concept]
Validated automatic mappings to NTBT
- Oculopharyngodistal myopathy [ICD-11 More detail]
- Oculopharyngodistal myopathy [ORDO Disease]
- Oculopharyngodistal myopathy (disorder) [SNOMED CT concept]
- oculopharyngodistal myopathy [MeSH concept]
- oculopharyngodistal myopathy [MeSH Supplementary Concept]

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